A Twin Study of Mitochondrial DNA Polymorphisms Shows that Heteroplasmy at Multiple Sites Is Associated with mtDNA Variant 16093 but Not with Zygosity

Toby Andrew, Cassandra D. Calloway, Sarah Stuart, Sang Hoon Lee, Raj Gill, Gail Clement, Philip Chowienczyk, Tim D. Spector, Ana M. Valdes

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21 Citations (Scopus)

Abstract

The mitochondrial theory of ageing proposes that damage to mitochondria and diminished mitochondrial DNA (mtDNA) repair are major contributors to cellular dysfunction and age-related diseases. We investigate the prevalence of heteroplasmy in the mtDNA control region in buccal swab and blood derived samples for 178 women from the TwinsUK cohort (41 DZ pair 39 MZ pairs, 18 singletons, mean age 57.5 range 28-82) and its relationship to age, BMI and fasting insulin and glucose serum levels. The overall estimated prevalence of heteroplasmy for both tissues in the control region measured for 37 sites was 17%. The prevalence of heteroplasmy was higher among the older half of the study subjects than in the younger half (23% vs 10% p
Original languageEnglish
Article numbere22332
JournalPL o S One
Volume6
Issue number8
Publication statusPublished - 2011

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